MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Congenital subglottic stenosis

ORPHA:141121Malf.

Congenital vertebral-cardiac-renal anomalies syndrome

ORPHA:521438Malf.
Autosomal recessive

Congenitally short costocoracoid ligament

ORPHA:2391Malf.
Autosomal dominant

Cono-spondylar dysplasia

ORPHA:420794Malf.
Autosomal recessive

Contractures-developmental delay-Pierre Robin syndrome

ORPHA:436003Malf.
Unknown

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1484Malf.
Autosomal recessive, X-linked recessive

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

ORPHA:314002Malf.
No data available

Cooks syndrome

ORPHA:1487Malf.
Autosomal dominant

Cooper-Jabs syndrome

ORPHA:1488Malf.
Autosomal recessive

Corneal dystrophy-perceptive deafness syndrome

ORPHA:1490Malf.
Autosomal recessive

Cornelia de Lange syndrome

ORPHA:199Malf.
Autosomal dominant, Not applicable, X-linked recessive

Corneodermatoosseous syndrome

ORPHA:3194Malf.
Autosomal dominant

Corpus callosum agenesis-abnormal genitalia syndrome

ORPHA:2508Malf.
X-linked recessive

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

ORPHA:52055Malf.
X-linked recessive

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

ORPHA:459074Malf.
Unknown

Cortical blindness-intellectual disability-polydactyly syndrome

ORPHA:1389Malf.
Autosomal recessive

Costello syndrome

ORPHA:3071Malf.
Autosomal dominant, Not applicable

Coxoauricular syndrome

ORPHA:1508Malf.
Unknown

Crane-Heise syndrome

ORPHA:1512Malf.
Autosomal recessive

Cranio-osteoarthropathy

ORPHA:1525Malf.
Autosomal recessive

Craniodiaphyseal dysplasia

ORPHA:1513Malf.
Autosomal dominant, Autosomal recessive, Not applicable

Craniodigital-intellectual disability syndrome

ORPHA:1514Malf.
Autosomal recessive, X-linked recessive

Cranioectodermal dysplasia

ORPHA:1515Malf.
Autosomal recessive

Craniofacial conodysplasia

ORPHA:85168Malf.
Autosomal dominant